The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study
- Conditions
- Alpha-1 Antitrypsin Deficiency
- Registration Number
- NCT00500123
- Lead Sponsor
- University of Florida
- Brief Summary
The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.
- Detailed Description
Genetic testing for alpha-1 antitrypsin deficiency is sometimes delayed despite established testing indications. All genetic tests have risks and possible benefits. The ACT study evaluates the population demographics, reasons for testing, and outcomes through a confidential testing program. Co-morbidities of alpha-1 antitrypsin deficiency other than lung and liver disease are being investigated. Concerns about genetic confidentiality are lessened in this study by a coded testing procedure that returns results through the mail to study participants.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 50000
- Individuals of any age at risk for alpha-1 antitrypsin deficiency on the basis of symptoms or family genetic risk.
- Any person who has already had genotype and AAT level testing completed and has a qualified result.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Structured questionnaire responses on the risks and benefits of testing. Before and after alpha-1 antitrypsin testing Rotating questionnaires assess the clinical course and co-morbidities associated with different genotypes of alpha-1 antitrypsin deficiency.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
University of Florida
🇺🇸Gainesville, Florida, United States